Genetic Test Details
Tyrosinemia: Elevated Succinylacetone
Test Information
- Titre
-
Tyrosinemia: Elevated Succinylacetone
- Catégorie
- Metabolic
- Sub Category
-
Tyrosinemia
- Gene/Platform/Region List
-
FAH, GSTZ1
- Test type
- Gene Panel
- Samples Accepted
- Blood , DNA , Dried Blood Spot (accepted ONLY for exceptional circumstances)
- Indications
- Diagnostics , Carrier Cascade Testing
- Test Methodology
- Sequencing
- Disease/Condition
-
Tyrosinemia Type 1, FAH deficiency fumarylacetoacetase deficiency fumarylacetoacetate hydrolase deficiency hepatorenal tyrosinemia hereditary tyrosinemia type 1
Dernière Mise à Jour: 18 juin 2025